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Article

Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

European journal of medical genetics - 1 Mar 2014

Schaefer Elise, Helms Pauline, Marcellin Luc, Desprez Philippe, Billaud Philippe, Chanavat Valérie, Rousson Robert, Millat Gilles

Abstract excerpt

Left ventricular noncompaction (LVNC) is a clinically heterogeneous disorder characterized by a trabecular meshwork and deep intertrabecular myocardial recesses that communicate with the left ventricular cavity. LVNC is classified as a rare genetic cardiomyopathy. Molecular diagnosis is a challenge for the medical community as the condition shares morphologic features of hypertrophic and dilated cardiomyopathies....

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Source

Identifiers

PMID: 24602869
DOI: 10.1016/j.ejmg.2014.02.015

Genes

MYBPC3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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